Type | Description |
---|---|
Definition | T-box 22 |
Date | Results | Publications |
---|---|---|
2018-10-27 12:02:00 | Findings indicate the important role of T-box 22 protein (TBX22) in familial cases with X-linked cleft palate. | 29932061 |
2016-06-28 10:47:00 | we analysed two TBX22 promoter rs7055763 and rs41307258 single-nucleotide polymorphisms (SNPs) in 173 patients with NSCLP and 176 normal controls of south Indian origin using Kbioscience KASPar chemistry | 25918826 |
2015-04-18 10:15:00 | These results suggest that a loss-of-function mutation in the X-linked TBX22 promoter may cause the cleft palate through disruption of TBX22-ETS-1 pathway. | 25373698 |
2014-01-18 10:07:00 | TBX22 is the gene underlying Abruzzo-Erickson syndrome. | 22784330 |
2011-06-04 10:16:00 | 5 putative missense mutations were identified, 3 located in T-box binding domain (R120Q, R126W, and R151L) that affects DNA binding and/or transcriptional repression. 2 novel C-terminal mutations, P389Q and S400Y, did not affect TBX22 activity. | 21248356 |
Type | IDs |
---|---|
Synonymous | ABERS, CLPA, CPX, TBXX, dJ795G23.1 |
Gene |
UniProtKB-ID:
TBX22_HUMAN,
B3KUL8_HUMAN
UniprotKB:
Q9Y458,
B3KUL8
UniParc:
UPI000153C47C,
UPI00001377ED,
UPI0000000DDD
EMBL:
AY035371,
AF251684,
AK097514,
BC014194,
CH471104,
AL031000
Ensembl:
ENSG00000122145,
ENSG00000277800
KO:
hsa:50945
|
Nucleutide sequences |
EMBL-CDS:
AAH14194.2,
EAW98588.1,
AAG23749.1,
AAK63189.1,
BAG53480.1
Ensembl_TRS:
ENST00000373294,
ENST00000619509,
ENST00000373296,
ENST00000628957
|
Protein sequencees |
Ensembl_PRO:
ENSP00000362390,
ENSP00000362393,
ENSP00000479825,
ENSP00000487295
RefSeq:
NP_001103348.1,
NP_001103349.1,
NP_058650.1,
NP_001290404.1
|
Others |
UniRef100:
UniRef100_B3KUL8,
UniRef100_Q9Y458
UniRef90:
UniRef90_B3KUL8,
UniRef90_Q9Y458
UniRef50:
UniRef50_B3KUL8,
UniRef50_Q9Y458
UniGene:
Hs.374253
CCDS:
CCDS14445.1
|
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